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rs606231312

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231312(-;-)
Make rs606231312(-;C)
Make rs606231312(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position112917915
GeneSLC16A1
is asnp
is mentioned by
dbSNPrs606231312
ebirs606231312
HLIrs606231312
Exacrs606231312
Varsomers606231312
Maprs606231312
PheGenIrs606231312
hapmaprs606231312
1000 genomesrs606231312
hgdprs606231312
ensemblrs606231312
gopubmedrs606231312
geneviewrs606231312
scholarrs606231312
googlers606231312
pharmgkbrs606231312
gwascentralrs606231312
openSNPrs606231312
23andMers606231312
23andMe allrs606231312
SNP Nexus

SNPshotrs606231312
SNPdbers606231312
MSV3drs606231312
GWAS Ctlgrs606231312
Max Magnitude0
ClinVar
Risk rs606231312(C;C)
Alt rs606231312(C;C)
Reference rs606231312(;)
Significance Pathogenic
Disease Monocarboxylate transporter 1 deficiency
Variation info
Gene SLC16A1
CLNDBN Monocarboxylate transporter 1 deficiency, autosomal dominant
Reversed 1
HGVS NC_000001.10:g.113460538dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000148039.3,